A to Z of syndromes

A-Z of syndromes - Down’s syndrome

Down's syndrome is a genetic disorder and is one of the most common congenital anomalies, affecting 1:1000 infants in the UK
Down's syndrome child

Down's syndrome is a genetic disorder and is one of the most common congenital anomalies, affecting 1:1000 infants in the UK. The syndrome occurs in all races and males and females are equally affected. It was named after a British doctor who is credited as the first person to describe the condition.

Down's syndrome is caused by an extra chromosome, or part of an extra chromosome. When the chromosomes are mapped out in pairs the extra genetic material is located on the 21st set of chromosomes. This is also known as trisomy 21.

Chromosome separation

This extra genetic material is caused by a failure of chromosomal separation during spermatogenesis, which is rare, or preparation of the ovum.

It is associated with advancing maternal age. Another less common mechanism of

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